title: [Ion channel dysfunction in pathogenesis of idiopathic epilepsies].
abstract: Despite advances in diagnostics, the cause of epilepsy has still not been unequivocally determined in 60-65% of patients. In this group of patients, genetic factors probably play the main role. It is thought that genetic predisposition is responsible for the occurrence of so-called "idiopathic" forms of epilepsy in about 40% of patients. The genetic basis of epilepsy has been substantiated by numerous examples of familial forms of epileptic syndromes. Among these, autosomal dominant nocturnal frontal lobe epilepsy and juvenile myoclonic epilepsy can be mentioned. Mutations in the neuronal nicotinic acetylcholine receptor subunit genes are responsible for both these epilepsies. Recent advances in molecular genetics have provided the means for better understanding of human epileptogenesis at a molecular level, which facilitates clinical diagnosis and provides a more rational basis for therapy and prevention of this form of epilepsy.
authors.affiliation: Katedra i Zakład Biochemii i Biologii Molekularnej, Uniwersytet Medyczny w Poznaniu, ul. Świêcickiego 6, 60-781. arozycka@umed.poznan.pl
authors.forename: Agata
authors.initials: A
authors.lastname: Różycka
authors.forename: Jolanta
authors.initials: J
authors.lastname: Dorszewska
authors.forename: Paweł P
authors.initials: PP
authors.lastname: Jagodziński
mesh_terms: D002869:Chromosome Aberrations; D004827:Epilepsy / Q000145:classification / Q000235:genetics*; D017034:Epilepsy, Frontal Lobe / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007473:Ion Channels / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D020183:Nocturnal Paroxysmal Dystonia / Q000235:genetics; D011950:Receptors, Cholinergic / Q000235:genetics; D011963:Receptors, GABA-A / Q000235:genetics; D011978:Receptors, Nicotinic / Q000235:genetics
chemical_list: D007473:Ion Channels; D011950:Receptors, Cholinergic; D011963:Receptors, GABA-A; D011978:Receptors, Nicotinic